RESUMO
Mutations in hepatocyte nuclear factor-1 alpha (HNF1A) as a homeodomain transcription factor which regulates variety of genes, are the most common cause of maturity-onset diabetes of the young (MODY). Detection of HNF1A mutations not only classifies the subtype, but also predicts the likely clinical course and may alters the method of treatment from insulin to the oral sulphonylureas, which is shown to improve glycemic control. The coding and promoter regions of HNF1A gene were screened for mutations in 34 unrelated Iranian MODY patients. We identified one novel missense mutation (C49G) and two novel polymorphisms and 8 recently identified SNPs in the HNF1A gene. It is possible that in Iran, other yet to be identified genes are responsible for the familial young onset diabetes. Hence, there is a need for more extensive genetic analyses in Iranian patients with familial young onset diabetes.
RESUMO
BACKGROUND: In lupus nephritis (LN), deposition of pathogenic autoantibodies in the glomeruli is mediated via cross-reactivity with alpha-actinin. Association of serum alpha-actinin antibody (AαA) with LN has been shown in a few studies but the results are controversial. METHODS: Eighty patients into entered the study. The diagnosis of SLE was confirmed according to the American College of Rheumatology criteria and LN was diagnosed by proteinuria ≥ 500 mg/24 hour and kidney biopsy. Serum AαA was measured with ELISA method. Receiver operating characteristics curve (ROC) analysis was applied to determine an optimal cutoff value for AαA to discriminate patients with and without LN at the highest sensitivity and specificity. The association of AαA with LN was determined by logistic regression analysis with calculation of odds ratio (OR). RESULTS: Serum AαA was significantly lower in LN as compared with SLE patients without LN (P=0.001). Serum AαA at cutoff levels ≤ 59.5 pg/ml discriminated the two groups with sensitivity, specificity, positive predictive values of 60%. 90% and 85.7%, respectively. Serum AαA level ≤ 59.5 pg/ml was significantly associated with LN (OR=13.5, P=0.001) and the OR increased to 25.2 (P=0.003) after adjustment for age, sex, C3, C4, anti-ds-DNA, SLEDAI. CONCLUSION: This study indicates that serum AαA decreases in LN and serum level ≤ 59.5 pg/ml is SLE and is predictive of nephritis.
RESUMO
Involvement of personality traits in susceptibility to suicidal behaviour has attracted considerable research interest over the past decades. This study was motivated by reports that emotionality may play a potentially confounding role in the association between the personality profile and suicidal behaviour. We assessed the association between personality traits, as measured using the Temperament and Character Inventory (TCI), and suicidal behaviour, while controlling for the effects of Affective Temperaments, measured using the Temperament Evaluation of the Memphis, Pisa, Paris and San Diego auto-questionnaire (TEMPS-A) in a sample of 140 consecutive self-poisoning nonlethal suicide (SNS) attempters admitted to the Emergency Toxicology Clinic, comparing them with a sample of 140 age and sex matched healthy controls. After controlling for Affective Temperaments, the temperament dimension of Novelty Seeking (NS) and the character dimensions of Self-directedness and Self-transcendence remained significantly associated with SNS attempts. NS, in particular, was most consistently and uniquely associated with suicidal behaviour. The present study conveys the difficulty in disentangling the personality profile of SNS attempters from their emotionality. We conclude that the risk associated with certain personality traits is often entirely mediated by Affective Temperaments and few dimensions independently contribute to the risk of self-poisoning nonlethal suicidal behaviour.